• Gene id: 37

Gene Summary

• Gene Symbol: ACADVL   Gene   UCSC   Ensembl
• Aliases: ACAD6, LCACD, VLCAD
• Gene name: acyl-CoA dehydrogenase very long chain
• Alternate names: very long-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-Coenzyme A dehydrogenase, very long chain,
• Gene location: 17p13.1 (7217124: 7225266)     Exons: 6     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fat
• OMIM: 609575

SNPs

rs775700619

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.73951138G>A
NC_000011.10   g.73951138G>C
NC_000011.9   g.73662183G>A
NC_000011.9   g.73662183G>C
NG_053111.1   g.5820G>A
NG_053111.1   g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13

rs754776389

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.73969996T>C
NC_000011.10   g.73969996T>G
NC_000011.9   g.73681041T>C
NC_000011.9   g.73681041T>G
NG_053111.1   g.24678T>C
NG_053111.1   g.24678T>G
NM_153614.3   c.833T>C
NM_153614.3   c.833T>G
NM_153614.2   c.833T>C
NM_153614.2   c.833T>G
XM_011545004.3  

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs6476866

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.4459274G>A
NC_000009.12   g.4459274G>C
NC_000009.11   g.4459274G>A
NC_000009.11   g.4459274G>C|SEQ=[G/A/C]

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs1328641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36170892C>T
NC_000013.10   g.36745029C>T
NG_033786.1   g.48724G>A|SEQ=[C/T]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs7811653

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs16937456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.71165720A>G
NC_000008.11   g.71165720A>T
NC_000008.10   g.72077955A>G
NC_000008.10   g.72077955A>T|SEQ=[A/G/T]|GENE=LOC105375894

rs17262815

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.129478919T>C
NC_000008.10   g.130491165T>C|SEQ=[T/C]|GENE=CCDC26

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs1127354

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.3213196C>A
NC_000020.11   g.3213196C>G
NC_000020.10   g.3193842C>A
NC_000020.10   g.3193842C>G
NG_012093.2   g.9330C>A
NG_012093.2   g.9330C>G
NM_033453.4   c.94C>A
NM_033453.4   c.94C>G
NM_033453.3   c.94C>A
NM_033453.3   c.94C>G
NM_181493.4   c.43C>A
NM  

rs7910927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs26279

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.80873118G>A
NC_000005.9   g.80168937G>A
NG_016607.2   g.223644G>A
NG_016607.1   g.223644G>A
NM_002439.5   c.3133G>A
NM_002439.4   c.3133G>A
NP_002430.3   p.Ala1045Thr|SEQ=[G/A]|GENE=MSH3

rs808119

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.8536792C>A
NC_000023.11   g.8536792C>T
NC_000023.10   g.8504833C>A
NC_000023.10   g.8504833C>T
NG_007088.2   g.200395G>T
NG_007088.2   g.200395G>A
NG_007088.1   g.200395G>T
NG_007088.1   g.200395G>A
NM_000216.4   c.1600G>T
NM_000216.4   c.1600G>A
NM_000  

rs809446

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.8535600G>A
NC_000023.10   g.8503641G>A
NG_007088.2   g.201587C>T
NG_007088.1   g.201587C>T
NM_000216.4   c.1833C>T
NM_000216.3   c.1833C>T
NM_000216.2   c.1833C>T|SEQ=[G/A]|GENE=ANOS1

rs1399645

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

rs4541736

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: P49748  
  • Name: Very long chain specific acyl CoA dehydrogenase, mitochondrial (VLCAD) (EC 1.3.8.9)
  • Length: 655  
  • Mass: 70390
• Sequence:

  MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAV
  GMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSEL
  GGVGLCNTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDA
  ASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKM
  GIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHN
  FGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVER
  VLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLV
  HPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEK
  MLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  
  • Prosite: PS00072 PS00073
  • PDB: 2UXW 3B96
  • PDBsum: 2UXW 3B96
  • STRING: ENSP00000438689
• Other Databases: GeneCards:  ACADVL  Malacards:  ACADVL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017099	very-long-chain-acyl-CoA dehydrogenase activity	IBA	molecular function
GO:0000062	fatty-acyl-CoA binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	TAS	molecular function
GO:0015980	energy derivation by oxidation of organic compounds	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IEA	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA	biological process
GO:0009062	fatty acid catabolic process	IEA	biological process
GO:0046322	negative regulation of fatty acid oxidation	IEA	biological process
GO:0009409	response to cold	IEA	biological process
GO:0001659	temperature homeostasis	IEA	biological process
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	ISS	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	ISS	biological process
GO:0090181	regulation of cholesterol metabolic process	ISS	biological process
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0001659	temperature homeostasis	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0046322	negative regulation of fatty acid oxidation	ISS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030855	epithelial cell differentiation	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
VLCAD deficiency	KEGG:H00392
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
VLCAD deficiency	KEGG:H00392
Alzheimer's disease	PMID:25260493
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq